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Wednesday, 23 November 2016

Exome testing combined with a Geno 2.0 Next Generation test from Helix

Helix, a new genetics start up company in the US, has just announced the launch of the first product on its new pay-as-you-go sequencing platform – a National Geographic Geno 2.0 Next Generation test. When you order the test the company will sequence your exome. That's the part of your genome which includes all the genes. Your DNA is then stored by the company and you can order additional DNA products as and when they become available. These will include reports on nutrition, health and fitness produced by other partner companies. Presumably Helix hopes that customers will be encouraged to pay for enough add-on products to recoup the costs of the exome sequencing. At present the Helix test is only available to US residents.

Helix is using a technology called Exome+ which they describe as follows:

The “exome” is comprised of all the DNA that encodes for protein—and because proteins are the machinery of your cells, the exome represents some of the most important and well-studied pieces of your DNA. But the exome is only part of your DNA story. The genetic experts at Helix have identified other important information-rich areas to sequence (hence, Exome+).

It is not clear how many of the SNPs used by Helix overlap with the SNPs used on the current Geno 2.0 NextGen test from the Genographic Project. The chip used for the standard Geno 2.0 NextGen test has around 700,000 autosomal SNPs, 20,000 Y-SNPs and 4000 mtDNA SNPs. The new Helix test therefore provides less coverage than the existing test. This is presumably because there are fewer ancestry informative markers in the exome.

Customers in the US who wish to order a Genographic test now have no other option but to buy the Geno Next Generation Helix Kit. The higher-resolution Geno 2.0 Next Gen test is still available for customers outside the US. Presumably the company will wait and see how the test fares in the US before deciding whether or not to roll it out to the rest of the world.

The concept of pay as you go sequencing is interesting but I would have thought it would make sense to wait until the full information is available from whole genome sequencing rather than ordering an exome sequencing test. In the current Full Genomes Corporation sale it is already possible to buy 30x whole genome sequencing for $1250, and 15x whole genome sequencing for $795. The Full Genomes test includes a full interpretation of the Y-chromosome data. The raw autosomal data can be uploaded to Promethease for a small fee of $5 for health reports. Veritas Genetics offers a 30x whole genome sequencing test for $999 which includes health and trait reports. No Y-chromosome interpretation is provided though this can be purchased though YFull for $49. However, the Veritas test needs to be authorised by a doctor. No doubt the cost of whole genome sequencing will come down in price in the next few years to a more affordable level.

"In November Helix began offering National Geographics' ancestry product Geno 2.0. Customers can order the spit kit through Helix and view their results online, although not yet through Helix's platform. This is allowing Helix to test out its ability to handle a large product launch, so by summer it can smoothly introduce multiple apps across all six categories."

"The company [Helix] has projected that the initial sequencing and app-based interpretation will cost around $200, a price point that Helix believes more healthy people — those who otherwise don't have a medical reason to seek more expensive testing — will choose to pay out of pocket. Helix is also betting that its app-based model will uncover novel uses for genomic data and enable a responsible path to delivering this information to consumers, by placing them in charge of what they want to learn: something "fun" (and some might argue light on scientific validity), like their wine tasting profile, or something that can impact their future wellbeing and that of their families, such as their hereditary risk for breast cancer."

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The material on these pages is copyright Debbie Kennett or reproduced with permission from other copyright owners. It may be downloaded and printed for personal reference, but not otherwise copied, altered in any way or transmitted to others (unless explicitly stated otherwise) without the written permission of Debbie Kennett.